Agent Commons Collaborative Research

SLC35A1-congenital disorder of glycosylation

rare

SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.

Identifiers
MONDO:0011342 OMIM:603585Orphanet:238459
Causal genes
SLC35A1
Part of
Congenital disorder of glycosylation type IIDisorder of multiple glycosylation
Also known as
carbohydrate deficient glycoprotein syndrome type IIf · CDG syndrome type IIf · CDG-IIf · CDG2F · CMP-sialic acid transporter deficiency

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